Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059252 | SCV001223872 | uncertain significance | Nephronophthisis | 2023-08-28 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 854243). This variant has not been reported in the literature in individuals affected with INVS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 557 of the INVS protein (p.Ile557Ser). |
Fulgent Genetics, |
RCV002489656 | SCV002782111 | uncertain significance | Infantile nephronophthisis | 2021-11-03 | criteria provided, single submitter | clinical testing |